Gene
poglut1
- ID
- ZDB-GENE-051120-24
- Name
- protein O-glucosyltransferase 1
- Symbol
- poglut1 Nomenclature History
- Previous Names
-
- ktelc1
- zgc:123318
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to have UDP-glucosyltransferase activity and UDP-xylosyltransferase activity. Predicted to be involved in positive regulation of Notch signaling pathway and protein O-linked glycosylation. Predicted to localize to endomembrane system. Human ortholog(s) of this gene implicated in Dowling-Degos disease and autosomal recessive limb-girdle muscular dystrophy. Orthologous to human POGLUT1 (protein O-glucosyltransferase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive limb-girdle muscular dystrophy type 2Z | Alliance | Muscular dystrophy, limb-girdle, autosomal recessive 21 | 617232 |
| Dowling-Degos disease | Alliance | Dowling-Degos disease 4 | 615696 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR006598 | Glycosyl transferase CAP10 domain |
Domain Details Per Protein
| Protein | Length | Glycosyl transferase CAP10 domain |
|---|---|---|
|
UniProtKB:A0A8M9PJ80
|
233 | |
|
UniProtKB:A0A8M9Q7R3
|
316 | |
|
UniProtKB:Q32LR4
|
389 |
| Type | Name | Annotation Method | Length (nt) | Analysis |
|---|---|---|---|---|
| mRNA |
poglut1-202
(1)
|
Havana | 961 nt |
Interactions and Pathways
No data available
Plasmids
No data available